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Mutation Direct

Effortless mutation search and display tool

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Gene: PTEN & Disease: Cerebral Visual Impairment, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
233777	PTEN	c.203A>G	p.Tyr68Cys (p.Y68C)	NM_000314.8 M	SNV	P	5 +	16
	PTEN	c.722A>G	p.Tyr241Cys (p.Y241C)	NM_001304717.5	SNV	P	5 +	16
	PTEN	c.-541-5495A>G	--	NM_001304718.2	SNV	P	5 +	16

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